Variant report

Variant	esv3433299
Chromosome Location	chr2:188204957-188207055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188202421..188204619-chr2:188206871..188209816,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72900656	chr2:188204974-188204975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35689355	chr2:188204997-188204998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372900038	chr2:188204998-188204999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541074182	chr2:188205002-188205003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558932336	chr2:188205126-188205127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149413951	chr2:188205132-188205133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34910860	chr2:188205185-188205186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74610919	chr2:188205186-188205187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563674625	chr2:188205210-188205211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368027033	chr2:188205249-188205250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188826769	chr2:188205405-188205406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552521010	chr2:188205409-188205410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570979329	chr2:188205416-188205417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528589084	chr2:188205431-188205432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372257971	chr2:188205452-188205453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555229357	chr2:188205479-188205480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547158950	chr2:188205517-188205518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1609268	chr2:188205598-188205599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35882685	chr2:188205632-188205633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550630248	chr2:188205668-188205669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368846976	chr2:188205726-188205727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571103910	chr2:188205839-188205840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58186724	chr2:188205876-188205877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71017388	chr2:188205885-188205886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535882504	chr2:188205951-188205952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550980595	chr2:188205998-188205999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193065189	chr2:188205999-188206000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13399503	chr2:188206019-188206020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371398466	chr2:188206025-188206026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185330680	chr2:188206156-188206157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576929125	chr2:188206193-188206194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534500396	chr2:188206307-188206308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552677784	chr2:188206327-188206328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3079484	chr2:188206360-188206361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370852790	chr2:188206361-188206362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141249026	chr2:188206364-188206365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549515713	chr2:188206373-188206374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397708051	chr2:188206374-188206375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115828358	chr2:188206448-188206449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562915060	chr2:188206468-188206469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575849033	chr2:188206498-188206499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116219269	chr2:188206509-188206510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375364344	chr2:188206622-188206623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564612977	chr2:188206644-188206645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1706276	chr2:188206664-188206665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189833613	chr2:188206690-188206691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547197476	chr2:188206741-188206742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181290676	chr2:188206814-188206815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529374803	chr2:188206914-188206915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185155466	chr2:188206933-188206934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188210200	Weak transcription	Ovary	ovary
3	chr2:188203800-188210400	Weak transcription	Left Ventricle	heart
4	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:188204600-188206800	Weak transcription	HUVEC	blood vessel
7	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
8	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel

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